Variant report

Variant	rs3016319
Chromosome Location	chr11:65981846-65981847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65978607..65980308-chr11:65981258..65983045,2	K562	blood:
2	chr11:65980950..65982569-chr11:65982585..65984496,2	K562	blood:

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10791865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10896104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115508	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151537	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1151539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1151540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1203798	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1717669	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892939	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508657	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs474005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs521109	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs524859	0.92[YRI][hapmap]
rs528842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs555360	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs555853	0.94[ASN][1000 genomes]
rs556595	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs708471	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs708472	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs801731	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs801734	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801735	0.88[EUR][1000 genomes]
rs801736	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801737	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801738	0.81[AFR][1000 genomes]
rs801739	0.94[EUR][1000 genomes]
rs801741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9326370	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3016319	KLC2	cis	Muscle Skeletal	GTEx
rs3016319	RP11-867G23.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65958800-65983600	Weak transcription	Small Intestine	intestine
2	chr11:65958800-65989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:65959200-65989400	Weak transcription	K562	blood
4	chr11:65959400-65983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:65959600-65983600	Weak transcription	Colonic Mucosa	Colon
6	chr11:65960200-65984000	Weak transcription	Fetal Heart	heart
7	chr11:65960600-65983600	Weak transcription	Fetal Brain Male	brain
8	chr11:65961200-65983600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
10	chr11:65962200-65983800	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:65962400-65983600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:65962800-65983600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:65963000-65984200	Weak transcription	HUVEC	blood vessel
14	chr11:65964000-65983600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:65964000-65989600	Weak transcription	Stomach Mucosa	stomach
16	chr11:65966400-65983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:65974200-65983400	Weak transcription	NHEK	skin
18	chr11:65975400-65983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:65976000-65983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:65976400-65989200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:65976400-65989600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:65976800-65983600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:65976800-65989600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65976800-65996000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:65977000-65989800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:65977200-65983400	Weak transcription	HepG2	liver
28	chr11:65977200-65983600	Weak transcription	NH-A	brain
29	chr11:65977200-65984800	Weak transcription	NHDF-Ad	bronchial
30	chr11:65977200-65996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:65977400-65983600	Weak transcription	Brain Substantia Nigra	brain
32	chr11:65977400-65990000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
34	chr11:65977600-65982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:65977600-65985200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:65977600-65989400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:65977600-65989400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:65977600-65989600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:65977600-65989800	Strong transcription	Fetal Intestine Small	intestine
40	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:65977800-65985200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:65977800-65987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:65977800-65987800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:65977800-65988800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65977800-65988800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:65977800-65988800	Strong transcription	Lung	lung
47	chr11:65977800-65989400	Strong transcription	Adipose Nuclei	Adipose
48	chr11:65977800-65989800	Strong transcription	Primary T cells from cord blood	blood
49	chr11:65977800-65990000	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:65978000-65982600	Strong transcription	Aorta	Aorta

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